ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830496520
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448076
ClinVar RCV Id:
RCV000516442
RCV000727425
RCV002060252
RCV003159661
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958784.1:p.Ala2089Val
CA4926060
NM_201382.4:c.6266C>T